PubRank

Giovanni Stevanin

Author PubWeight™ 95.90‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004 2.75
2 Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006 2.34
3 Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 2006 2.09
4 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012 1.97
5 Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007 1.83
6 Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 2008 1.79
7 A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol 2010 1.77
8 Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol 2012 1.76
9 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004 1.72
10 Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012 1.71
11 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 2009 1.57
12 Heterozygous OPA1 mutations in Behr syndrome. Brain 2010 1.57
13 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 2012 1.52
14 PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2013 1.51
15 Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res 2002 1.41
16 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 2013 1.41
17 Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010 1.40
18 Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 2006 1.37
19 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012 1.34
20 Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol 2005 1.26
21 REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat 2011 1.26
22 SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009 1.25
23 Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 2004 1.22
24 Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 2006 1.22
25 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 2009 1.18
26 KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat 2010 1.17
27 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet 2013 1.15
28 Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet 2015 1.09
29 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat 2010 1.08
30 Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat 2009 1.07
31 Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol Cell Neurosci 2011 1.06
32 A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. J Neurosci 2007 1.06
33 RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet 2012 1.04
34 Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. Arch Neurol 2008 1.03
35 A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 2010 1.02
36 Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. Ophthalmology 2010 0.99
37 LINGO1 polymorphisms are associated with essential tremor in Europeans. Mov Disord 2010 0.99
38 NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics 2007 0.99
39 New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS One 2013 0.98
40 SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol 2011 0.97
41 SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA Neurol 2013 0.97
42 PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases. Neurobiol Dis 2003 0.96
43 Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. Neurobiol Dis 2012 0.95
44 Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. JAMA Neurol 2013 0.92
45 Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 2010 0.90
46 Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat 2013 0.90
47 Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Arch Neurol 2007 0.90
48 Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol 2006 0.90
49 Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content. Brain 2002 0.89
50 SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. Neurogenetics 2007 0.88
51 A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007 0.88
52 A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet 2012 0.87
53 Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. Brain 2013 0.86
54 KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet 2013 0.86
55 Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet 2007 0.86
56 Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala. Arch Neurol 2012 0.85
57 Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity. Mol Cell Neurosci 2005 0.85
58 A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol 2006 0.85
59 New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005 0.84
60 The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Neurogenetics 2013 0.83
61 An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss. Neurogenetics 2008 0.83
62 The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice. Acta Neuropathol 2014 0.83
63 Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics 2007 0.82
64 A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet 2010 0.82
65 A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics 2007 0.82
66 A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet 2013 0.82
67 Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 2005 0.81
68 Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J Mol Diagn 2006 0.81
69 Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics 2007 0.81
70 Spastic paraplegia 15: linkage and clinical description of three Tunisian families. Mov Disord 2008 0.80
71 Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. J Neurol 2013 0.80
72 Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. Arch Neurol 2007 0.79
73 Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet 2008 0.79
74 Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. BMC Med Genomics 2013 0.79
75 New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol 2013 0.78
76 Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS One 2012 0.78
77 The impact of rare variants in FUS in essential tremor. Mov Disord 2015 0.78
78 Spinocerebellar ataxia type 10 in the French population. Ann Neurol 2002 0.78
79 A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics 2006 0.78
80 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet 2013 0.77
81 Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia. Amyotroph Lateral Scler 2010 0.77
82 A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007 0.76
83 Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations. Mov Disord 2011 0.76
84 A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Neurogenetics 2012 0.76
85 Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J Neurol Sci 2008 0.76
86 A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2014 0.75
87 SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 2017 0.75
88 The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients. Mov Disord 2007 0.75
89 Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. Br J Ophthalmol 2014 0.75
90 Identification of a de novo mutation in SPG11. Mov Disord 2010 0.75